Canonical Allele Identifier: PA2573067248
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1332142
ClinVar RCV Id: RCV001804658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ile818Val
CA404098928
NM_001195798.2:c.2452A>G